A case of de novo trisomy 12p syndrome
A case of de novo trisomy 12p syndrome
复制标题
新发12p三体综合征一例
DOI：
10.1111/j.1399-0004.1989.tb02958.x
复制
发表时间：
1989
影响因子：
3.5
通讯作者：
E. A. Sharaf
中科院分区：
文献类型：
--
作者：
S. Tayel;M. McCorquodale;T. Rutherford;T. Kurczynski;Adel M. Abdel‐Aziz;Farid El‐Gabaldy;E. A. Sharaf
A case of pure 12p trisomy was discovered in a 14‐year‐old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded children. The patient had a normal birth weight but later showed developmental delay. Clinical examination at 14 years of age revealed a high bulging forehead, broad and flat nasal bridge, large mouth with everted lower lip, folded upper ear helix with protuberant antihelix, pectus excavatum, undescended testes, flat feet, generalized hypotonia and moderate mental retardation. Chromosomes analyzed from blood lymphocytes showed an enlarged short arm with an additional band on one of the no. 12 chromosomes. The duplicated chromosomal material extended from 12pter→p12.2, including the LDH‐B locus, which showed a gene‐dosage effect. This extra chromosomal material arose de novo by tandem duplication. The parents' chromosomes were normal.
